Transcriptional alterations in Type II Rothmund-Thompson Syndrome

We generated induced pluripotent stem cell lines (iPSCs) from paired RTS patient/ parental control fibroblasts. These iPSCs were differentiated to mesenchymal stem cells (MSCs), and then to osteoblasts. We next compared the transcriptional profiles of MSCs, pre-osteoblasts, and osteoblasts. Comparison of Type II RTS (RECQL4 mut/mut) iPCS derived mesenchymal stem celks, early osteoblasts, and late osteoblasts to Family controls (RECQL4wt/mut).